From this rather complicated story, I would assume that your son has the Autoimmune Polyglandular Syndrome Type II, which is a condition in which a number of autoimmune conditions can occur together. I understood that your son did have a positive antitransglutaminase test at diagnosis, but it is well recognised that this test as well as the biopsy appearance can become negative after a time on a gluten free diet. So, I am sure that the celiac disease diagnosis is unchallenged. I am puzzled however by the negative antibody tests for type 1A (autoimmune) diabetes, and I think you should discuss this with the doctor. It might be that as an economy measure he was only tested for islet cell antibodies using just the immunofluorescent screening test and did not have the now routine anti-insulin, ICA512 and GAD tests. Certainly though, it would make sense now to test for other components of this syndrome including hypothyroidism with a TSH and for adrenal insufficiency with an anti-21hydoxylase level. This latter component might explain his problem with hypoglycemia. Loss of bone density can also occur in celiac disease and this might explain his back and joint pain.
Two final suggestions would to go over his diet with the dietitian on his the team and his problems as a whole with the Medical Social Worker. I hope this will offer some new suggestions for your son’s care.
DOB
Additional comments from Dr. Stuart Brink:
You need to go back to your son’s pediatric diabetes team and work some of the problems out once again. Make sure they have checked for adrenal insufficiency and also thyroid problems as well as what you have already mentioned. Some stomach and intestinal motility studies may also be warranted. Lastly, testing for celiac disease is not 100%. If someone does better clinically with the difficult gluten-free diet approach, then it may be reasonable to continue this approach even if the testing is negative. I have experience with one such patient.
SB
